Variant report

Variant	esv2642477
Chromosome Location	chr10:42385426-42385522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:42385424..42387506-chr16:88876940..88878642,2	MCF-7	breast:
2	chr10:42385049..42385862-chr2:89835873..89836374,2	MCF-7	breast:
3	chr10:42385048..42385927-chr20:45917973..45918793,2	MCF-7	breast:
4	chr10:42384702..42385548-chr19:46850298..46850828,2	MCF-7	breast:
5	chr10:42385202..42385933-chr7:149119111..149120081,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261842	chromatin interactions
ENSG00000198931	chromatin interactions
ENSG00000011485	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78961114	chr10:42385426-42385427	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs79442841	chr10:42385427-42385428	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs58697832	chr10:42385430-42385431	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs559104770	chr10:42385432-42385433	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs76033477	chr10:42385434-42385435	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs9703862	chr10:42385435-42385436	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs79026075	chr10:42385437-42385438	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs76269518	chr10:42385440-42385441	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs76745707	chr10:42385442-42385443	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs78508263	chr10:42385444-42385445	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs79987061	chr10:42385446-42385447	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs4494892	chr10:42385447-42385448	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs77035125	chr10:42385448-42385449	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs79781216	chr10:42385453-42385454	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs76122476	chr10:42385454-42385455	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs28841595	chr10:42385456-42385457	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs9664997	chr10:42385458-42385459	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs75899743	chr10:42385460-42385461	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs79941769	chr10:42385464-42385465	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs67030057	chr10:42385465-42385466	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs2448323	chr10:42385470-42385471	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs9663110	chr10:42385474-42385475	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs9633799	chr10:42385476-42385477	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs541249368	chr10:42385481-42385482	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs28859697	chr10:42385487-42385488	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs58363703	chr10:42385488-42385489	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs4086586	chr10:42385490-42385491	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs11818975	chr10:42385491-42385492	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs28818002	chr10:42385497-42385498	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs9794111	chr10:42385498-42385499	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs55980968	chr10:42385501-42385502	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs28793423	chr10:42385502-42385503	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs1829349	chr10:42385506-42385507	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs60529441	chr10:42385507-42385508	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs28883622	chr10:42385509-42385510	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs4092975	chr10:42385510-42385511	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs12411405	chr10:42385514-42385515	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs59601000	chr10:42385516-42385517	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs2173465	chr10:42385520-42385521	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20858243	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42373600-42385600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:42373600-42385600	ZNF genes & repeats	Lung	lung
3	chr10:42373600-42385800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:42373600-42385800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
5	chr10:42373600-42385800	ZNF genes & repeats	Pancreas	Pancrea
6	chr10:42373600-42385800	ZNF genes & repeats	K562	blood
7	chr10:42373600-42386000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:42373600-42386000	ZNF genes & repeats	Aorta	Aorta
9	chr10:42373600-42387800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
10	chr10:42373600-42388200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
11	chr10:42373600-42388200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
12	chr10:42373600-42388200	ZNF genes & repeats	Placenta	Placenta
13	chr10:42373600-42388200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
14	chr10:42373600-42388400	ZNF genes & repeats	Spleen	Spleen
15	chr10:42373600-42388600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
16	chr10:42373600-42389400	ZNF genes & repeats	Stomach Mucosa	stomach
17	chr10:42373600-42397200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
18	chr10:42373600-42397200	ZNF genes & repeats	GM12878-XiMat	blood
19	chr10:42373600-42397200	ZNF genes & repeats	HUVEC	blood vessel
20	chr10:42373600-42397400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
21	chr10:42373600-42399600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:42373600-42399600	ZNF genes & repeats	Fetal Kidney	kidney
23	chr10:42373600-42400800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr10:42373600-42400800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:42373600-42400800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:42373600-42400800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:42373600-42400800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
30	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
33	chr10:42373600-42400800	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr10:42373600-42400800	ZNF genes & repeats	Brain Angular Gyrus	brain
35	chr10:42373600-42400800	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr10:42373600-42400800	ZNF genes & repeats	Brain Hippocampus Middle	brain
37	chr10:42373600-42400800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
38	chr10:42373600-42400800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
39	chr10:42373600-42400800	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr10:42373600-42400800	ZNF genes & repeats	Colon Smooth Muscle	Colon
41	chr10:42373600-42400800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr10:42373600-42400800	ZNF genes & repeats	Fetal Heart	heart
43	chr10:42373600-42400800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr10:42373600-42400800	ZNF genes & repeats	Fetal Lung	lung
45	chr10:42373600-42400800	ZNF genes & repeats	Gastric	stomach
46	chr10:42373600-42400800	ZNF genes & repeats	Left Ventricle	heart
47	chr10:42373600-42400800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
48	chr10:42373600-42400800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
49	chr10:42373600-42400800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
50	chr10:42373600-42400800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle

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